The summaries are free for public
use. The Chronic Liver Disease
Foundation will continue to add and
archive summaries of articles deemed
relevant to CLDF by the Board of
Trustees and its Advisors.
Abstract Details
Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson's Disease-Case Report and Literature Review
1Department of Pediatrics, Marie Curie Emergency Children's Hospital, 041451 Bucharest, Romania.
2Department of Physiology, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.
3Department of Pediatric Surgery, Marie Curie Emergency Children's Hospital, 041451 Bucharest, Romania.
4Department of Pediatric Surgery, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.
5Department of Pathology, Colentina Hospital, 020125 Bucharest, Romania.
6Department of Pediatrics, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Abstract
Wilson's disease (WD) is an autosomal recessive disorder, in which the metabolism of copper is affected by metal accumulation in several organs that causes gradual organ degeneration. Since Wilson's initial description of WD over a century ago, there have been significant improvements in understanding and managing the condition. Nevertheless, the ongoing gap between the onset of symptoms and diagnosis highlights the difficulties in identifying this copper overload disorder early. Despite being a treatable condition, detecting WD early remains a challenge for healthcare professionals at all levels of care, likely due to its rarity. The key challenge is, therefore, to educate physicians on how to identify atypical or infrequent symptoms of WD, prompting them to consider the diagnosis more carefully. The purpose of our review is to draw attention to the difficulties associated with diagnosing pediatric WD, starting from our personal experience of a complex case and then examining relevant literature. In summary, the diagnosis of WD in children is intricate and requires a heightened level of suspicion to identify this infrequent condition. A thorough evaluation by a multidisciplinary team of physicians, along with genetic testing, histopathologic examination, and specialized imaging studies, may be necessary to confirm the diagnosis and guide treatment.